Concepedia

Next-generation Sequencing Validation

Next-Generation Sequencing Validation is a methodological framework within genomic data analysis that systematically verifies the accuracy, sensitivity, and reproducibility of variant detection and characterization produced by next-generation sequencing technologies through comparative assessment against established reference standards or orthogonal experimental techniques.

287

Publications

16.9K

Citations

2.8K

Authors

881

Institutions

Publications per year

2017–2026

173

Variants

Ngs Validation

Parents

Publications

287

Transcriptome genetics using second generation sequencing in a Caucasian population

Stephen B. Montgomery, Michael Sammeth, María Gutiérrez‐Arcelus et al. · Nature · 2010 · 828 citations · Full text

, , +9

Validation of Metagenomic Next-Generation Sequencing Tests for Universal Pathogen Detection

Robert Schlaberg, Charles Y. Chiu, Steve Miller et al. · Archives of Pathology & Laboratory Medicine · 2017 · 560 citations · Full text

, , +17

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Erika Souche, Mariëlle Alders et al. · European Journal of Human Genetics · 2015 · 519 citations · Full text

, , +16

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

Jason O'Rawe, Tao Jiang, Guangqing Sun et al. · Genome Medicine · 2013 · 469 citations · Full text

, , +17

FDA-ARGOS is a database with public quality-controlled reference genomes for diagnostic use and regulatory science

Heike Sichtig, Timothy D. Minogue, Yi Yan et al. · Nature Communications · 2019 · 332 citations · Full text

, , +17

1–5 of 287

Authors

2.8K

  1. UM
    Umberto Malapelle

    University of Naples Federico II, Italy

    5 publications · 165 citations

    5

    h-index

  2. RL
    Rajyalakshmi Luthra

    The University of Texas MD Anderson Cancer Center, United States

    5 publications · 798 citations

    5

    h-index

  3. GT
    Giancarlo Troncone

    University of Naples Federico II, Italy

    5 publications · 165 citations

    5

    h-index

  4. KP
    Keyur P. Patel

    The University of Texas MD Anderson Cancer Center, United States

    4 publications · 747 citations

    4

    h-index

  5. JM
    Joaquín Martínez‐López

    Hospital Universitario 12 De Octubre, Spain

    4 publications · 106 citations

    4

    h-index

1–5 of 2.8K

Institutions

881

  1. Chinese Academy of Medical Sciences & Peking Union Medical College

    Beijing, China

    8 h-index

    38 publications

    1.4K citations

  2. University of North Carolina at Chapel Hill

    Chapel Hill, United States

    7 h-index

    13 publications

    773 citations

  3. The University of Texas MD Anderson Cancer Center

    Houston, United States

    7 h-index

    72 publications

    11.1K citations

  4. University of Naples Federico II

    Naples, Italy

    7 h-index

    42 publications

    1.3K citations

  5. Harvard University

    Cambridge, United States

    7 h-index

    14 publications

    526 citations

  6. University Health Network

    Toronto, Canada

    6 h-index

    12 publications

    710 citations

  7. Heidelberg University

    Heidelberg, Germany

    6 h-index

    53 publications

    2.4K citations

  8. Washington University in St. Louis

    St Louis, United States

    6 h-index

    57 publications

    7K citations

1–8 of 881

Venues

  1. Journal of Molecular Diagnostics

    JMD · 23 publications · 1.6K citations

    18

    h-index

  2. PLoS ONE

    18 publications · 1.2K citations

    18

    h-index

  3. Forensic Science International Genetics

    FSI · 14 publications · 1.4K citations

    14

    h-index

  4. Genetics in Medicine

    GIM · 7 publications · 462 citations

    7

    h-index

  5. Archives of Pathology & Laboratory Medicine

    6 publications · 790 citations

    6

    h-index

1–5